SNP Shot: Genomic Insights

Neuroferritinopathy is a condition characterized by the slow buildup of iron in the brain. The basal ganglia, areas of the brain vital for movement control, are especially vulnerable. Typically, individuals with neuroferritinopathy begin experiencing worsening movement problems around age 40. These can manifest as chorea (involuntary, jerky movements), tremor (rhythmic shaking), ataxia (coordination difficulties), or dystonia (uncontrolled muscle contractions). Often, these symptoms are more pronounced on one side of the body. Swallowing difficulties (dysphagia) and speech problems (dysarthria) are also common.

While intelligence generally remains intact in those with neuroferritinopathy, some individuals experience a gradual decline in cognitive function, leading to dementia. Personality changes, such as decreased inhibitions and emotional instability, can also emerge as the condition progresses.

Inheritance:

Neuroferritinopathy follows an autosomal dominant inheritance pattern. This means that only one copy of the mutated gene in each cell is enough to cause the disorder. In most instances, an affected individual inherits the gene mutation from a parent who also has the condition. However, neuroferritinopathy can also arise from a new gene mutation in individuals with no prior family history of the disorder.